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Congenital long QT syndrome(RWS)

MedGen UID:
685787
Concept ID:
C1141890
Disease or Syndrome
Synonyms: Familial long QT syndrome; Romano-Ward syndrome; RWS; Ventricular fibrillation with prolonged QT interval
SNOMED CT: Congenital long QT syndrome (442917000); Inherited long QT syndrome (442917000); Familial long QT syndrome (442917000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Related genes: ALG10B, AKAP9, KCNE2, SNTA1, SCN5A, SCN4B, KCNQ1, KCNJ5, KCNH2, KCNE1, CAV3
 
Monarch Initiative: MONDO:0019171
OMIM® Phenotypic series: PS192500
Orphanet: ORPHA768

Definition

Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). A form of torsade de pointes in which the first beat has a short coupling interval has been described (613600). Genetic Heterogeneity of Long QT Syndrome Other forms of LQT syndrome (LQTS) are LQT2 (613688), caused by mutation in the KCNH2 gene (152427); LQT3 (603830), caused by mutation in the SCN5A gene (600163); LQT4 (see 600919), caused by mutation in the ANK2 gene (106410); LQT5 (613695), caused by mutation in the KCNE1 gene (176261); LQT6 (613693), caused by mutation in the KCNE2 gene (603796); LQT7 (Andersen cardiodysrhythmic periodic paralysis, 170390), caused by mutation in the KCNJ2 gene (600681); LQT8 (618447), caused by mutation in the CACNA1C gene (114205); LQT9 (611818), caused by mutation in the CAV3 gene (601253); LQT10 (611819), caused by mutation in the SCN4B gene (608256); LQT11 (611820), caused by mutation in the AKAP9 gene (604001); LQT12 (612955), caused by mutation in the SNTA1 gene (601017); LQT13 (613485), caused by mutation in the KCNJ5 gene (600734); LQT14 (616247), caused by mutation in the CALM1 gene (114180), LQT15 (616249), caused by mutation in the CALM2 gene (114182); and LQT16 (618782), caused by mutation in the CALM3 gene (114183). Approximately 10% of LQTS patients in whom a mutation is identified in one ion channel gene carry a second mutation in the same gene or in another ion channel gene (Tester et al., 2005). Reviews Giudicessi and Ackerman (2016) reviewed the role of Ca(2+) cycling in cardiac repolarization and in the pathogenesis of long QT-associated cardiac arrhythmias. [from OMIM]

Professional guidelines

PubMed

Wilde AAM, Amin AS, Postema PG
Heart 2022 Mar;108(5):332-338. Epub 2021 May 26 doi: 10.1136/heartjnl-2020-318259. PMID: 34039680Free PMC Article
Kaufman ES, Eckhardt LL, Ackerman MJ, Aziz PF, Behr ER, Cerrone M, Chung MK, Cutler MJ, Etheridge SP, Krahn AD, Lubitz SA, Perez MV, Priori SG, Roberts JD, Roden DM, Schulze-Bahr E, Schwartz PJ, Shimizu W, Shoemaker MB, Sy RW, Towbin JA, Viskin S, A M Wilde A, Zareba W
Circ Arrhythm Electrophysiol 2021 Jul;14(7):e009726. Epub 2021 Jul 9 doi: 10.1161/CIRCEP.120.009726. PMID: 34238011Free PMC Article
Itoh H, Crotti L, Aiba T, Spazzolini C, Denjoy I, Fressart V, Hayashi K, Nakajima T, Ohno S, Makiyama T, Wu J, Hasegawa K, Mastantuono E, Dagradi F, Pedrazzini M, Yamagishi M, Berthet M, Murakami Y, Shimizu W, Guicheney P, Schwartz PJ, Horie M
Eur Heart J 2016 May 7;37(18):1456-64. Epub 2015 Dec 28 doi: 10.1093/eurheartj/ehv695. PMID: 26715165Free PMC Article

Recent clinical studies

Etiology

Krahn AD, Laksman Z, Sy RW, Postema PG, Ackerman MJ, Wilde AAM, Han HC
JACC Clin Electrophysiol 2022 May;8(5):687-706. doi: 10.1016/j.jacep.2022.02.017. PMID: 35589186
Wilde AAM, Amin AS, Postema PG
Heart 2022 Mar;108(5):332-338. Epub 2021 May 26 doi: 10.1136/heartjnl-2020-318259. PMID: 34039680Free PMC Article
Galić E, Bešlić P, Kilić P, Planinić Z, Pašalić A, Galić I, Ćubela VV, Pekić P
Acta Clin Croat 2021 Dec;60(4):739-748. doi: 10.20471/acc.2021.60.04.22. PMID: 35734489Free PMC Article
Adler A, Novelli V, Amin AS, Abiusi E, Care M, Nannenberg EA, Feilotter H, Amenta S, Mazza D, Bikker H, Sturm AC, Garcia J, Ackerman MJ, Hershberger RE, Perez MV, Zareba W, Ware JS, Wilde AAM, Gollob MH
Circulation 2020 Feb 11;141(6):418-428. Epub 2020 Jan 27 doi: 10.1161/CIRCULATIONAHA.119.043132. PMID: 31983240Free PMC Article
Itoh H, Crotti L, Aiba T, Spazzolini C, Denjoy I, Fressart V, Hayashi K, Nakajima T, Ohno S, Makiyama T, Wu J, Hasegawa K, Mastantuono E, Dagradi F, Pedrazzini M, Yamagishi M, Berthet M, Murakami Y, Shimizu W, Guicheney P, Schwartz PJ, Horie M
Eur Heart J 2016 May 7;37(18):1456-64. Epub 2015 Dec 28 doi: 10.1093/eurheartj/ehv695. PMID: 26715165Free PMC Article

Diagnosis

Krahn AD, Laksman Z, Sy RW, Postema PG, Ackerman MJ, Wilde AAM, Han HC
JACC Clin Electrophysiol 2022 May;8(5):687-706. doi: 10.1016/j.jacep.2022.02.017. PMID: 35589186
Wilde AAM, Amin AS, Postema PG
Heart 2022 Mar;108(5):332-338. Epub 2021 May 26 doi: 10.1136/heartjnl-2020-318259. PMID: 34039680Free PMC Article
Galić E, Bešlić P, Kilić P, Planinić Z, Pašalić A, Galić I, Ćubela VV, Pekić P
Acta Clin Croat 2021 Dec;60(4):739-748. doi: 10.20471/acc.2021.60.04.22. PMID: 35734489Free PMC Article
Lankaputhra M, Voskoboinik A
Intern Med J 2021 Dec;51(12):1999-2011. doi: 10.1111/imj.15437. PMID: 34151491
Nakano Y, Shimizu W
J Hum Genet 2016 Jan;61(1):51-5. Epub 2015 Jun 25 doi: 10.1038/jhg.2015.74. PMID: 26108145

Therapy

Neves R, Bains S, Bos JM, MacIntyre C, Giudicessi JR, Ackerman MJ
Trends Cardiovasc Med 2024 Jan;34(1):39-47. Epub 2022 Jun 27 doi: 10.1016/j.tcm.2022.06.006. PMID: 35772688
Al-Ghusn AI, Bakheit AH, Attwa MW, AlRabiah H
Profiles Drug Subst Excip Relat Methodol 2023;48:109-134. Epub 2023 Feb 2 doi: 10.1016/bs.podrm.2022.11.004. PMID: 37061272
Krahn AD, Laksman Z, Sy RW, Postema PG, Ackerman MJ, Wilde AAM, Han HC
JACC Clin Electrophysiol 2022 May;8(5):687-706. doi: 10.1016/j.jacep.2022.02.017. PMID: 35589186
Galić E, Bešlić P, Kilić P, Planinić Z, Pašalić A, Galić I, Ćubela VV, Pekić P
Acta Clin Croat 2021 Dec;60(4):739-748. doi: 10.20471/acc.2021.60.04.22. PMID: 35734489Free PMC Article
Adamos G, Iacovidou N, Xanthos T
Mini Rev Med Chem 2018;18(6):495-506. doi: 10.2174/1389557517666170707110000. PMID: 28685698

Prognosis

Abrahams T, Davies B, Laksman Z, Sy RW, Postema PG, Wilde AAM, Krahn AD, Han HC
Heart Rhythm 2023 Nov;20(11):1570-1582. Epub 2023 Jul 20 doi: 10.1016/j.hrthm.2023.07.059. PMID: 37481219
Itoh H, Crotti L, Aiba T, Spazzolini C, Denjoy I, Fressart V, Hayashi K, Nakajima T, Ohno S, Makiyama T, Wu J, Hasegawa K, Mastantuono E, Dagradi F, Pedrazzini M, Yamagishi M, Berthet M, Murakami Y, Shimizu W, Guicheney P, Schwartz PJ, Horie M
Eur Heart J 2016 May 7;37(18):1456-64. Epub 2015 Dec 28 doi: 10.1093/eurheartj/ehv695. PMID: 26715165Free PMC Article
Crotti L, Celano G, Dagradi F, Schwartz PJ
Orphanet J Rare Dis 2008 Jul 7;3:18. doi: 10.1186/1750-1172-3-18. PMID: 18606002Free PMC Article
Karch SB
South Med J 2005 Aug;98(8):794-9. doi: 10.1097/01.smj.0000168701.08879.3f. PMID: 16144174
El-Sherif N, Turitto G
Curr Opin Cardiol 2003 Jan;18(1):6-13. doi: 10.1097/00001573-200301000-00002. PMID: 12496496

Clinical prediction guides

Abrahams T, Davies B, Laksman Z, Sy RW, Postema PG, Wilde AAM, Krahn AD, Han HC
Heart Rhythm 2023 Nov;20(11):1570-1582. Epub 2023 Jul 20 doi: 10.1016/j.hrthm.2023.07.059. PMID: 37481219
Galić E, Bešlić P, Kilić P, Planinić Z, Pašalić A, Galić I, Ćubela VV, Pekić P
Acta Clin Croat 2021 Dec;60(4):739-748. doi: 10.20471/acc.2021.60.04.22. PMID: 35734489Free PMC Article
Goldenberg I, Bos JM, Yoruk A, Chen AY, Lopes C, Huang DT, Kutyifa V, Younis A, Aktas MK, Z Rosero S, McNitt S, Sotoodehnia N, Kudenchuk PJ, Rea TD, Arking DE, Scott CG, Briske KA, Sorensen K, J Ackerman M, Zareba W
J Am Heart Assoc 2021 Jul 20;10(14):e021088. Epub 2021 Jul 9 doi: 10.1161/JAHA.121.021088. PMID: 34238014Free PMC Article
Itoh H, Crotti L, Aiba T, Spazzolini C, Denjoy I, Fressart V, Hayashi K, Nakajima T, Ohno S, Makiyama T, Wu J, Hasegawa K, Mastantuono E, Dagradi F, Pedrazzini M, Yamagishi M, Berthet M, Murakami Y, Shimizu W, Guicheney P, Schwartz PJ, Horie M
Eur Heart J 2016 May 7;37(18):1456-64. Epub 2015 Dec 28 doi: 10.1093/eurheartj/ehv695. PMID: 26715165Free PMC Article
El-Sherif N, Turitto G
Curr Opin Cardiol 2003 Jan;18(1):6-13. doi: 10.1097/00001573-200301000-00002. PMID: 12496496

Recent systematic reviews

Tardo DT, Peck M, Subbiah RN, Vandenberg JI, Hill AP
Ann Noninvasive Electrocardiol 2023 Jan;28(1):e13015. Epub 2022 Nov 7 doi: 10.1111/anec.13015. PMID: 36345173Free PMC Article
Yang Y, Lv TT, Li SY, Liu P, Gao QG, Zhang P
J Am Heart Assoc 2022 Jul 19;11(14):e025246. Epub 2022 Jul 8 doi: 10.1161/JAHA.122.025246. PMID: 35861842Free PMC Article
Galić E, Bešlić P, Kilić P, Planinić Z, Pašalić A, Galić I, Ćubela VV, Pekić P
Acta Clin Croat 2021 Dec;60(4):739-748. doi: 10.20471/acc.2021.60.04.22. PMID: 35734489Free PMC Article
Adler A, Novelli V, Amin AS, Abiusi E, Care M, Nannenberg EA, Feilotter H, Amenta S, Mazza D, Bikker H, Sturm AC, Garcia J, Ackerman MJ, Hershberger RE, Perez MV, Zareba W, Ware JS, Wilde AAM, Gollob MH
Circulation 2020 Feb 11;141(6):418-428. Epub 2020 Jan 27 doi: 10.1161/CIRCULATIONAHA.119.043132. PMID: 31983240Free PMC Article
Tse G, Gong M, Meng L, Wong CW, Georgopoulos S, Bazoukis G, Wong MCS, Letsas KP, Vassiliou VS, Xia Y, Baranchuk AM, Yan GX, Liu T
J Electrocardiol 2018 May-Jun;51(3):396-401. Epub 2018 Mar 6 doi: 10.1016/j.jelectrocard.2018.03.001. PMID: 29550106

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